Fanconi Anemia

Common Name(s)

Fanconi Anemia

Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

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Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

Last Updated: 24 Nov 2009

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

Last Updated: 29 Apr 2014

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National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

Last Updated: 20 Feb 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

Logo
Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

http://www.fanconicanada.org/en/

Last Updated: 24 Nov 2009

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

http://www.fanconi.org

Last Updated: 29 Apr 2014

View Details
National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

http://www.nbmtlink.org

Last Updated: 20 Feb 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fanconi Anemia" returned 499 free, full-text research articles on human participants. First 3 results:

[Association between clinical outcome and gene mutation in children with Fanconi anemia].
 

Author(s): Li-Xian Chang, Ruan-Ruan Ren, Wen-Yu Yang, Jia-Yuan Zhang, Yang Wan, Tian-Feng Liu, Li Zhang, Xiao-Juan Chen, Shuai Zhu, Min Ruan, Xia Chen, Xiao-Ming Liu, Ben-Quan Qi, Ran-Ran Zhang, Yao Zou, Yu-Mei Chen, Xiao-Fan Zhu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2016 Aug;18(8):742-5.

 

To investigate the association between clinical outcome and gene mutations in children with Fanconi anemia (FA).

Last Updated: 17 Aug 2016

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Upregulated LINE-1 Activity in the Fanconi Anemia Cancer Susceptibility Syndrome Leads to Spontaneous Pro-inflammatory Cytokine Production.
 

Author(s): Christelle Brégnard, Jessica Guerra, Stéphanie Déjardin, Frank Passalacqua, Monsef Benkirane, Nadine Laguette

Journal: EBioMedicine. 2016 Jun;8():184-94.

 

Fanconi Anemia (FA) is a genetic disorder characterized by elevated cancer susceptibility and pro-inflammatory cytokine production. Using SLX4(FANCP) deficiency as a working model, we questioned the trigger for chronic inflammation in FA. We found that absence of SLX4 caused cytoplasmic ...

Last Updated: 19 Jul 2016

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Profiling Fanconi Anemia Gene Mutations among Iranian Patients.
 

Author(s): Giti Esmail Nia, Mahsa Fadaee, Robert Royer, Hossein Najmabadi, Mohammad R Akbari

Journal: Arch Iran Med. 2016 Apr;19(4):236-40.

 

Fanconi anemia (FA) is a rare genetic syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. FA is usually inherited as an autosomal recessive condition. This disease is genetically heterogeneous and mutations in 16 different genes have been ...

Last Updated: 4 Apr 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fanconi Anemia" returned 53 free, full-text review articles on human participants. First 3 results:

Update of the human and mouse Fanconi anemia genes.
 

Author(s): Hongbin Dong, Daniel W Nebert, Elspeth A Bruford, David C Thompson, Hans Joenje, Vasilis Vasiliou

Journal:

 

Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90 years, only in the last 20 years have increasing numbers of genes been implicated in ...

Last Updated: 24 Nov 2015

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What is the DNA repair defect underlying Fanconi anemia?
 

Author(s): Julien P Duxin, Johannes C Walter

Journal: Curr. Opin. Cell Biol.. 2015 Dec;37():49-60.

 

Fanconi anemia (FA) is a rare human genetic disease characterized by bone marrow failure, cancer predisposition, and genomic instability. It has been known for many years that FA patient-derived cells are exquisitely sensitive to DNA interstrand cross-linking agents such as cisplatin ...

Last Updated: 21 Dec 2015

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Exploiting the Fanconi Anemia Pathway for Targeted Anti-Cancer Therapy.
 

Author(s): Ukhyun Jo, Hyungjin Kim

Journal: Mol. Cells. 2015 Aug;38(8):669-76.

 

Genome instability, primarily caused by faulty DNA repair mechanisms, drives tumorigenesis. Therapeutic interventions that exploit deregulated DNA repair in cancer have made considerable progress by targeting tumor-specific alterations of DNA repair factors, which either induces synthetic ...

Last Updated: 24 Aug 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 17 Feb 2017

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Last Updated: 27 Feb 2017

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Quercetin in Children With Fanconi Anemia; a Pilot Study
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 19 Aug 2016

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